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    C15orf48 chromosome 15 open reading frame 48 [ Homo sapiens (human) ]

    Gene ID: 84419, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C15orf48provided by HGNC
    Official Full Name
    chromosome 15 open reading frame 48provided by HGNC
    Primary source
    HGNC:HGNC:29898
    See related
    Ensembl:ENSG00000166920 MIM:608409; AllianceGenome:HGNC:29898
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MOCCI; NMES1; FOAP-11; MISTRAV; COXFA4L3; MIR147BHG
    Summary
    This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]
    Expression
    Biased expression in colon (RPKM 233.7), small intestine (RPKM 89.5) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C15orf48 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45430610..45433340)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (43238782..43241512)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45722808..45725538)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene glycine amidinotransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6408 Neighboring gene AFG2 AAA ATPase homolog B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45716799-45717298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6409 Neighboring gene uncharacterized LOC107987223 Neighboring gene microRNA 147b Neighboring gene RNA, U7 small nuclear 5 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Inflammation causes remodeling of mitochondrial cytochrome c oxidase mediated by the bifunctional gene C15orf48. Clayton SA, et al. Sci Adv, 2021 Dec 10. PMID 34878835, Free PMC Article
    2. A regulatory dendritic cell signature correlates with the clinical efficacy of allergen-specific sublingual immunotherapy. Zimmer A, et al. J Allergy Clin Immunol, 2012 Apr. PMID 22464673
    3. Discovery of novel methylation biomarkers in cervical carcinoma by global demethylation and microarray analysis. Sova P, et al. Cancer Epidemiol Biomarkers Prev, 2006 Jan. PMID 16434596
    4. Analysis of the methylation status of genes up-regulated by the demethylating agent, 5-aza-2'-deoxycytidine, in esophageal squamous cell carcinoma. Arai M, et al. Oncol Rep, 2008 Aug. PMID 18636205
    5. A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma. Zhou J, et al. Int J Cancer, 2002 Oct 1. PMID 12209954

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
      Title: Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. The negative correlation of NMES1 expression with esophageal oncogenesis suggests its suppressive role in tumorigenesis of the esophagus, while the precise function of NMES1 still needs further investigation.
      Title: A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22645, MGC32925

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex IV IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    normal mucosa of esophagus-specific gene 1 protein
    Names
    MIR147B host
    cytochrome c oxidase subunit FA4 like 3
    mitochondrial stress response antiviral
    modulator of cytochrome C oxidase during inflammation
    normal mucosa of esophagus specific 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_032413.4 → NP_115789.1  normal mucosa of esophagus-specific gene 1 protein

      See identical proteins and their annotated locations for NP_115789.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF228422, BM312626
      Consensus CDS
      CCDS10124.1
      UniProtKB/Swiss-Prot
      Q9C002
      Related
      ENSP00000341610.3, ENST00000344300.3
      Conserved Domains (1) summary
      pfam06522
      Location:9 → 76
      B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

    2. NM_197955.3 → NP_922946.1  normal mucosa of esophagus-specific gene 1 protein

      See identical proteins and their annotated locations for NP_922946.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF228422, BC021173, BM312626
      Consensus CDS
      CCDS10124.1
      UniProtKB/Swiss-Prot
      Q9C002
      Related
      ENSP00000379887.2, ENST00000396650.7
      Conserved Domains (1) summary
      pfam06522
      Location:9 → 76
      B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      45430610..45433340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      43238782..43241512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C002.1 GenPept UniProtKB/Swiss-Prot:Q9C002

    Gene LinkOut

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